Canonical Allele Identifier: CA430235961

Linked Data

MyVariant Identifiers: chr2:g.179397002G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532275G>C , CM000664.2:g.178532275G>C GRCh38
NC_000002.11:g.179397002G>C , CM000664.1:g.179397002G>C GRCh37
NC_000002.10:g.179105248G>C NCBI36
NG_011618.3:g.303528C>G , LRG_391:g.303528C>G
NG_051363.1:g.14449G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96636C>G (TTN) ENSP00000343764.6:p.Thr32212=
ENST00000342175.11:c.77721C>G (TTN) ENSP00000340554.6:p.Thr25907=
ENST00000359218.10:c.77520C>G (TTN) ENSP00000352154.5:p.Thr25840=
ENST00000342175.10:c.77721C>G (TTN) ENSP00000340554.6:p.Thr25907=
ENST00000342992.10:c.96636C>G (TTN) ENSP00000343764.6:p.Thr32212=
ENST00000359218.9:c.77520C>G (TTN) ENSP00000352154.5:p.Thr25840=
ENST00000460472.6:c.77145C>G (TTN) ENSP00000434586.1:p.Thr25715=
ENST00000589042.5:c.104340C>G (TTN) MANE Select ENSP00000467141.1:p.Thr34780=
ENST00000591111.5:c.99417C>G (TTN) ENSP00000465570.1:p.Thr33139=
ENST00000615779.4:c.99417C>G (TTN) ENSP00000483597.1:p.Thr33139=
NM_001256850.1:c.99417C>G (TTN) NP_001243779.1:p.Thr33139=
NM_001267550.2:c.104340C>G (TTN) MANE Select NP_001254479.2:p.Thr34780=
NM_003319.4:c.77145C>G (TTN) NP_003310.4:p.Thr25715=
NM_133378.4:c.96636C>G (TTN) NP_596869.4:p.Thr32212=
NM_133432.3:c.77520C>G (TTN) NP_597676.3:p.Thr25840=
NM_133437.4:c.77721C>G (TTN) NP_597681.4:p.Thr25907=
NR_038271.1:n.446+8639G>C (TTN-AS1)
NR_038272.1:n.220-3457G>C (TTN-AS1)
XM_011511729.1:c.103437C>G (TTN) XP_011510031.1:p.Thr34479=
XM_011511730.1:c.77331C>G (TTN) XP_011510032.1:p.Thr25777=
XM_011511731.1:c.77190C>G (TTN) XP_011510033.1:p.Thr25730=
XM_017004819.1:c.103233C>G (TTN) XP_016860308.1:p.Thr34411=
XM_017004820.1:c.98631C>G (TTN) XP_016860309.1:p.Thr32877=
XM_017004821.1:c.98628C>G (TTN) XP_016860310.1:p.Thr32876=
XM_017004822.1:c.95670C>G (TTN) XP_016860311.1:p.Thr31890=
XM_017004823.1:c.77286C>G (TTN) XP_016860312.1:p.Thr25762=
XM_024453094.1:c.98781C>G (TTN) XP_024308862.1:p.Thr32927=
XM_024453095.1:c.98778C>G (TTN) XP_024308863.1:p.Thr32926=
XM_024453096.1:c.98211C>G (TTN) XP_024308864.1:p.Thr32737=
XM_024453097.1:c.95553C>G (TTN) XP_024308865.1:p.Thr31851=
XM_024453098.1:c.95472C>G (TTN) XP_024308866.1:p.Thr31824=
XM_024453099.1:c.77235C>G (TTN) XP_024308867.1:p.Thr25745=
XM_024453100.1:c.67089C>G (TTN) XP_024308868.1:p.Thr22363=